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Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 01/2018, Volume 61, Issue 1, pp. 24 - 28
Multiple epiphyseal dysplasias (MED) are a group of heterogeneous skeletal dysplasias, which share a common phenotype: short stature, skeletal deformities,... 
DTDST | SLC26A2 | Recessive multiple epiphyseal dysplasia | Clubfoot | GENE | GENETICS & HEREDITY | EPIPHYSEAL DYSPLASIA | LOCUS | Osteochondrodysplasias - pathology | Osteochondrodysplasias - genetics | Pedigree | Humans | Adolescent | Adult | Female | Heterozygote | Male | Mutation, Missense | Anion Transport Proteins - genetics | Index Medicus
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 03/2005, Volume 14, Issue 6, pp. 859 - 871
Mutations in the diastrophic dysplasia sulfate transporter (DTDST or SLC26A2) cause a family of recessively inherited chondrodysplasias including, in order of... 
CMV monitoring | SYNDROME FIBROBLASTS | OUTER HAIR-CELLS | BIOCHEMISTRY & MOLECULAR BIOLOGY | kidney transplantation | MACULAR CORNEAL-DYSTROPHY | CMV prophylaxis | AMINO-ACID SULFUR | GENE ENCODES | MULTIPLE EPIPHYSEAL DYSPLASIA | CMV infection | PROTEOGLYCAN SULFATION | DTDST MUTATION | GENETICS & HEREDITY | MOLECULAR-CLONING | CMV disease | KERATAN SULFATE
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 01/2014, Volume 27, Issue 1, pp. 75 - 80
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 11/2011, Volume 19, Issue 11, pp. 1133 - 1137
Journal Article
Journal Article
Journal Article
Case Reports in Perinatal Medicine, ISSN 2192-8932, 03/2016, Volume 5, Issue 1, pp. 65 - 67
Atelosteogenesis type 2 also known as atelosteogenesis de la Chapelle type, De la Chapelle dysplasia, McAlister dysplasia or neonatal osseous dysplasia 1 is an... 
DTDST | gene diagnosis | AO II | chondrodysplasia | rhizomesoacromelic | atelosteogenesis | Medical diagnosis
Journal Article
Human Mutation, ISSN 1059-7794, 04/2009, Volume 30, Issue 4, pp. 599 - 608
Journal Article
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